Variant report

Variant	rs74130931
Chromosome Location	chr1:193159403-193159404
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr1:193159226-193159545	HepG2	liver:	n/a	n/a
2	MAFK	chr1:193159240-193159661	IMR90	lung:	n/a	n/a
3	RAD21	chr1:193159360-193160383	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr1:193159380-193159530	HFF-Myc	foreskin:	n/a	n/a
5	TCF7L2	chr1:193159393-193159769	HepG2	liver:	n/a	n/a
6	MAFK	chr1:193159235-193159555	HepG2	liver:	n/a	n/a
7	MAFK	chr1:193159250-193159562	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193159041..193161726-chr1:193183249..193186234,2	K562	blood:
2	chr1:193156268..193159950-chr1:193162638..193166172,6	K562	blood:

Variant related genes	Relation type
B3GALT2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56067713	0.93[AFR][1000 genomes]
rs58056953	0.93[AFR][1000 genomes]
rs6682435	1.00[AFR][1000 genomes]
rs6683844	0.93[AFR][1000 genomes]
rs74130921	0.93[AFR][1000 genomes]
rs74130922	0.93[AFR][1000 genomes]
rs74130927	1.00[AFR][1000 genomes]
rs7531808	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv275335	chr1:193155443-193159711	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193140400-193159800	Weak transcription	Dnd41	blood
2	chr1:193140800-193161400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:193144200-193160400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:193148400-193161200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:193155400-193161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:193155600-193160000	Weak transcription	Gastric	stomach
7	chr1:193155600-193160200	Weak transcription	K562	blood
8	chr1:193155600-193178400	Weak transcription	HUVEC	blood vessel
9	chr1:193155800-193159800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:193155800-193160000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:193155800-193160200	Enhancers	Fetal Intestine Small	intestine
12	chr1:193155800-193160400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:193155800-193160600	Weak transcription	Fetal Thymus	thymus
14	chr1:193155800-193161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:193155800-193161200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:193155800-193161400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:193155800-193161400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:193155800-193161400	Weak transcription	Thymus	Thymus
19	chr1:193155800-193161600	Weak transcription	Primary B cells from cord blood	blood
20	chr1:193155800-193161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:193155800-193175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
24	chr1:193156000-193159800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:193156000-193160200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:193156000-193160200	Enhancers	Fetal Intestine Large	intestine
27	chr1:193156000-193161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:193156000-193161800	Weak transcription	Psoas Muscle	Psoas
29	chr1:193156000-193167400	Weak transcription	Ovary	ovary
30	chr1:193156000-193175400	Weak transcription	HMEC	breast
31	chr1:193156200-193159800	Weak transcription	Adipose Nuclei	Adipose
32	chr1:193156200-193160000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:193156200-193160400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:193156200-193161400	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:193156200-193174600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:193156200-193175400	Weak transcription	NHEK	skin
37	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
38	chr1:193156400-193161800	Weak transcription	Right Ventricle	heart
39	chr1:193156600-193160200	Enhancers	Fetal Lung	lung
40	chr1:193156600-193161200	Weak transcription	Primary T cells from cord blood	blood
41	chr1:193156600-193161200	Weak transcription	Fetal Stomach	stomach
42	chr1:193156600-193161800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:193156600-193173000	Weak transcription	Osteobl	bone
44	chr1:193156600-193180200	Weak transcription	NH-A	brain
45	chr1:193156800-193160200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:193156800-193160400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:193156800-193161400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:193157000-193160000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr1:193157000-193161600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:193157000-193161800	Weak transcription	NHLF	lung

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